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Year Number of Results
1992 1
2002 1
2003 1
2004 1
2007 1
2008 1
2010 1
2011 1
2012 1
2013 1
2022 0
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Page 1
A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants.
Sharma M, Ioannidis JP, Aasly JO, Annesi G, Brice A, Bertram L, Bozi M, Barcikowska M, Crosiers D, Clarke CE, Facheris MF, Farrer M, Garraux G, Gispert S, Auburger G, Vilariño-Güell C, Hadjigeorgiou GM, Hicks AA, Hattori N, Jeon BS, Jamrozik Z, Krygowska-Wajs A, Lesage S, Lill CM, Lin JJ, Lynch T, Lichtner P, Lang AE, Libioulle C, Murata M, Mok V, Jasinska-Myga B, Mellick GD, Morrison KE, Meitnger T, Zimprich A, Opala G, Pramstaller PP, Pichler I, Park SS, Quattrone A, Rogaeva E, Ross OA, Stefanis L, Stockton JD, Satake W, Silburn PA, Strom TM, Theuns J, Tan EK, Toda T, Tomiyama H, Uitti RJ, Van Broeckhoven C, Wirdefeldt K, Wszolek Z, Xiromerisiou G, Yomono HS, Yueh KC, Zhao Y, Gasser T, Maraganore D, Krüger R; GEOPD consortium. Sharma M, et al. Among authors: yomono hs. J Med Genet. 2012 Nov;49(11):721-6. doi: 10.1136/jmedgenet-2012-101155. J Med Genet. 2012. PMID: 23125461 Free PMC article.
Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families.
Hara K, Shiga A, Nozaki H, Mitsui J, Takahashi Y, Ishiguro H, Yomono H, Kurisaki H, Goto J, Ikeuchi T, Tsuji S, Nishizawa M, Onodera O. Hara K, et al. Among authors: yomono h. Neurology. 2008 Aug 19;71(8):547-51. doi: 10.1212/01.wnl.0000311277.71046.a0. Epub 2008 Jun 25. Neurology. 2008. PMID: 18579805
[Autopsy case of SCA2 with Parkinsonian phenotype].
Yomono HS, Kurisaki H, Hebisawa A, Sakiyama Y, Saito Y, Murayama S. Yomono HS, et al. Rinsho Shinkeigaku. 2010 Mar;50(3):156-62. doi: 10.5692/clinicalneurol.50.156. Rinsho Shinkeigaku. 2010. PMID: 20235484 Japanese.